Hs03710485_cn

• Gene Symbol: MIGA2
• Assay Reference Genome Location: Chr.9:129044440 on build GRCh38
• Cytoband: 9q34.11

Target Gene Details

• Entrez Gene ID: 84895
• Gene Name: mitoguardin 2
• Gene Aliases: C9orf54, FAM73B
• Location: Chr.9:129036605-129072082 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIGA2	NM_032809.2			NP_116198.2
	XM_005252282.1			XP_005252339.1
	XM_011519117.1			XP_011517419.1
	XM_011519118.1			XP_011517420.1
	AK074127.1			BAB84953.1
	AK075421.1			BAC11611.1
	AK301241.1
	AK303036.1
	BC009114.1			AAH09114.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv818725	Chr.9:129026890 - 129176634 on Build GRCh38	Gain	IER5L DOLPP1 SH3GLB2 PTPA CRAT MIGA2
nsv831729	Chr.9:128973042 - 129158330 on Build GRCh38	Loss	NUP188 DOLPP1 SH3GLB2 PTPA CRAT MIGA2
nsv509323	Chr.9:128991062 - 129129399 on Build GRCh38	Insertion	NUP188 DOLPP1 SH3GLB2 PTPA CRAT MIGA2

More Information

Additional Information:

For this assay, SNP(s) [rs76119366] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitochondrial fusion
bone development

Function(s)

protein binding
protein homodimerization activity
protein heterodimerization activity